Variant position: 549 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1663 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FRLVAYYTLIGASGQREVVA DSVWVDVKDSCVGSLVVKSGQ
Mouse FRLVAYYTLIGASGQREVVA DSVWVDVKDSCIGTLVVKGDP
Rat FRLVAYYTLIGANGQREVVA DSVWVDVKDSCVGTLVVKGDP
Pig FRLVAYYTLIAANGQREVVA DSVWVDVKDSCVGTLVVKGGG
Bovine FRLVAYYTLINAKGQREVVA DSVWVDVKDSCMGTLVVKNGG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (Asp549 to Asn) impairs C3 secretion.
Singer L.; Whitehead W.T.; Akama H.; Katz Y.; Fishelson Z.; Wetsel R.A.;
J. Biol. Chem. 269:28494-28499(1994)
Cited for: VARIANT C3D ASN-549;
Quantitative detection of single amino acid polymorphisms by targeted proteomics.
Su Z.D.; Sun L.; Yu D.X.; Li R.X.; Li H.X.; Yu Z.J.; Sheng Q.H.; Lin X.; Zeng R.; Wu J.R.;
J. Mol. Cell Biol. 3:309-315(2011)
Cited for: VARIANT ASN-549; IDENTIFICATION BY MASS SPECTROMETRY;
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